The student will participate in the evaluation and management of children with metabolic/genetic disorders of those children suspected of having such disorders.
The successful completion of a 3rd year clerkship in pediatrics.
Upon completion of this elective the student will be able to:
1. Obtain a family history emphasizing genetic principles and demonstrating an awareness of the manifestation of inherited metabolic disorders.
2. Perform a physical exam emphasizing the features of dysmorphic and metabolic syndromes.
3. List a differential diagnosis which includes likely and possible genetic/metabolic diseases.
4. Outlines a plan of therapy which is compatible with accepted biochemical and physiological principles.
5. List a specific genetic counseling plan to each family.
6. List the indications for specific laboratory tests commonly used in the diagnosis of metabolic and genetic disorders. This list needs to be extensive, but need not include every possible test.
1. Attend genetic and metabolic clinic.
2. Respond to requests for consultations from genetic metabolic service.
3. Make ward rounds weekly with each patient
4. Attend clinics which have special interest: lumatology, neurology, pulmonary, nephrology, other…
5. Attend x-ray conference, grand rounds and resident noon conference and make a contribution to at least one of these conferences.
1. Present a paper at the end of the rotation which demonstrates in depth work on one genetic/metabolic concept.
2. Observations by the facility.